Details of Disease

General Information of Disease (ID: DISYYXU6)

Disease Name Camptodactyly of fingers
Synonyms familial streblodactyly; camptodactyly and knuckle pads; camptodactyly 1; streblodactyly; crooked little finger, familial; minor streblomicrodactyly, familial; CAMPD1
Definition
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISYYXU6: Camptodactyly of fingers
Disease Identifiers
MONDO ID
MONDO_0007250
MESH ID
C567780
UMLS CUI
C2751430
OMIM ID
114200
MedGen ID
416550
Orphanet ID
295016

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TLN2 OT10QQBC Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.